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GENE - TERM ANNOTATION REPORT

RGD ID: 1308355
Species: Rattus norvegicus
RGD Object: Gene
Symbol: C8a
Name: complement C8 alpha chain
Acc ID: DOID:0060301
Term: type I complement component 8 deficiency
Definition: A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
C8a ISOC8A (Homo sapiens)7240710OMIM  
C8a ISOC8A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
C8a ISOC8A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Type I complement component 8 deficiencyPMID:24033266 PMID:25741868 PMID:28492532 PMID:7649542 PMID:975502 PMID:9759902
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